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The Children's Research Institute

Muscle and Muscular Dystrophy

Our interdisciplinary muscular dystrophy research and clinical programs are an internationally-recognized resource for researchers, patients/families, and physicians. Our team is interested in the following areas of muscle and muscular dystrophy:

  • Duchenne and Becker muscular dystrophy. For this group. our drug development programs include exon skipping supported by a NIH P50 Center of Research Translation (CORT), and National Institutes of Health (NIH) U54 Pediatric Pharmacology Center. The first for-profit spin-off of Children’s National Health System is focused on drug development for Duchenne muscular dystrophy (ReveraGen), and the lead VBP15 drug development program has received NIH TRND status, as well as MDA Venture Philanthropy funding. Our other activities include pre-clinical mouse drug testing facilities, molecular diagnostics, clinical trials and trial networks, and Muscular Dystrophy Association clinics. 
  • Facioscapulohumeral Dystrophy. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited muscular dystrophy. Our previous research found that certain genes, DUX4 and PITX1, could play a critical role in the molecular mechanisms of FSHD.  Our current research projects focus on 1) Identifying additional transcriptionally regulated targets of DUX4 using genome-wide expression profiling and protein profiling; 2) Identifying molecular pathways involved in muscle atrophy induced by over-expressing Pitx1; 3) Identifying small molecules that can modify the expression of DUX4 and PITX1.
  • Inflammatory myopathies. Led by Kanneboyina Nagaraju, DVM, PhD, our laboratory team is involved in studying the mechanism of muscle fiber damage and dysfunction (weakness) in autoimmune myositis. We are mainly focused on studying both immune (cell-mediated and humoral) and non-immune (ER stress, autophagy) mechanisms of muscle fiber damage in myositis.
  • Limb-girdle and congenital muscular dystrophies (LGMD, CMD). The limb-girdle muscular dystrophies are a heterogeneous group of muscle diseases with both dominant and recessive inheritance patterns with onset in childhood or adulthood. Typically slowly progressive weakness is seen. The congenital muscular dystrophies typically present at birth, and are typically recessively inherited. Our research is focused on novel gene discovery, molecular pathophysiology, molecular diagnostics, and experimental therapeutics.
The overall effort has been named the Wicker Project For Muscular Dystrophy, in honor of Senator Roger Wicker of Mississippi, a tireless advocate for muscular dystrophy patients and their families.

The muscular dystrophies group has been awarded numerous distinctions, including designation as one of six NIH national Wellstone Muscular Dystrophy Centers, one of six National Centers for Medical Rehabilitation Research, and a U.S. Department of Defense Program Project in Translational Research in Muscular Dystrophy. Eric Hoffman, PhD, was awarded the first HeartSongs Award by the Muscular Dystrophy Association, given by Mattie Stepanek.

Clinical programs include the headquarters for the Cooperative International Neuromuscular Research Group (CINRG) clinical trials group, and the Muscular Dystrophy Association Interdisciplinary Clinic. CINRG is a consortium of medical and scientific investigators from academic and research centers who share the common goal of wanting to positively impact the lives of neuromuscular disease patients and their families.

The Murine Drug Testing Core is the largest pre-clinical drug testing facility worldwide, and provides contract services to industry and academia, as well as foundation and government funded research. Kanneboyina Nagaraju, D.V.M., Ph.D., Core Director, helped spearhead the development of international standard operating procedures with the European TREAT-NMD group.

Faculty interests relevant to muscular dystrophy include:

Cell biology of muscle and membrane repair

Surrogate biomarkers for Duchenne muscular dystrophy

  • Yetrib Hathout, Ph.D.
  • Kanneboyina Nagaraju, D.V.M., Ph.D.

Facioscapulohumeral Muscular Dystrophy

  • Yi-Wen Chen, D.M.V., Ph.D.


  • Kanneboyina Nagaraju, D.V.M., Ph.D.

Muscular dystrophies

  • Kanneboyina Nagaraju, D.V.M., Ph.D.
  • Eric Hoffman, Ph.D.

Pre-clinical drug testing facility

  • Kanneboyina Nagaraju, Ph.D., D.V.M.

Clinical Trials and Cooperative International Neuromuscular Research Group (CINRG)

  • Avital Cnaan, Ph.D.

Systemic anti-sense drug development

  • Kristy Brown, Ph.D.
  • Yetrib Hathout, Ph.D.
  • Eric Hoffman, Ph.D.
  • Kanneboyina Nagaraju, D.V.M., Ph.D.
  • Terence Partridge, Ph.D.
  • Jyoti Jaiswal, PhD

Dissociative steroid drug development

  • Eric Hoffman, Ph.D.
  • Kanneboyina Nagaraju, D.V.M., Ph.D.